Canonical Allele Identifier: CA204501636

Gene: RAB18

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27532336_27532340del , CM000672.2:g.27532336_27532340del	GRCh38
NC_000010.10:g.27821265_27821269del , CM000672.1:g.27821265_27821269del	GRCh37
NC_000010.9:g.27861271_27861275del	NCBI36
NG_032035.1:g.33163_33167del

Transcript Alleles

HGVS	Amino-acid Change
NM_021252.5:c.187-171_187-167del MANE Select	NP_067075.1:n.187-171_187-167del
ENST00000356940.11:c.187-171_187-167del MANE Select	ENSP00000349415.7:n.187-171_187-167del
NM_001256410.1:c.274-171_274-167del	NP_001243339.1:n.274-171_274-167del
NM_001256410.2:c.274-171_274-167del	NP_001243339.1:n.274-171_274-167del
NM_001256411.1:c.187-171_187-167del	NP_001243340.1:n.187-171_187-167del
NM_001256411.2:c.187-171_187-167del	NP_001243340.1:n.187-171_187-167del
NM_001256412.1:c.187-1592_187-1588del	NP_001243341.1:n.187-1592_187-1588del
NM_001256412.2:c.187-1592_187-1588del	NP_001243341.1:n.187-1592_187-1588del
NM_001256415.1:c.115-171_115-167del	NP_001243344.1:n.115-171_115-167del
NM_001256415.2:c.115-171_115-167del	NP_001243344.1:n.115-171_115-167del
NM_021252.4:c.187-171_187-167del	NP_067075.1:n.187-171_187-167del
NR_046172.1:n.321-171_321-167del
NR_046172.2:n.191-171_191-167del
ENST00000356940.10:c.187-171_187-167del	ENSP00000349415.6:n.187-171_187-167del
ENST00000375802.7:c.125-1399_125-1395del	ENSP00000364960.3:n.125-1399_125-1395del
ENST00000423465.1:c.524-171_524-167del
ENST00000423465.2:c.13-171_13-167del	ENSP00000407872.2:n.13-171_13-167del
ENST00000465772.5:n.180-171_180-167del
ENST00000535776.5:c.187-1592_187-1588del	ENSP00000439321.1:n.187-1592_187-1588del
ENST00000535776.6:c.274-171_274-167del	ENSP00000439321.2:n.274-171_274-167del
ENST00000611151.4:c.115-171_115-167del	ENSP00000483927.1:n.115-171_115-167del
ENST00000611151.5:c.125-171_125-167del	ENSP00000483927.2:n.125-171_125-167del
ENST00000621805.4:c.274-171_274-167del	ENSP00000478479.1:n.274-171_274-167del
ENST00000621805.5:c.274-171_274-167del	ENSP00000478479.1:n.274-171_274-167del
ENST00000682082.1:c.187-171_187-167del	ENSP00000507542.1:n.187-171_187-167del
ENST00000682138.1:n.5551_5555del
ENST00000682173.1:c.57-1592_57-1588del
ENST00000682181.1:c.*492-171_*492-167del	ENSP00000507392.1:n.*492-171_*492-167del
ENST00000682389.1:c.187-1592_187-1588del	ENSP00000507154.1:n.187-1592_187-1588del
ENST00000682518.1:n.201-1399_201-1395del
ENST00000682668.1:c.540-171_540-167del
ENST00000682852.1:c.*32-171_*32-167del	ENSP00000508341.1:n.*32-171_*32-167del
ENST00000682963.1:c.-92-1399_-92-1395del	ENSP00000507532.1:n.-92-1399_-92-1395del
ENST00000683042.1:n.271-171_271-167del
ENST00000683088.1:n.302-1399_302-1395del
ENST00000683419.1:c.125-171_125-167del	ENSP00000508094.1:n.125-171_125-167del
ENST00000683538.1:c.540-171_540-167del
ENST00000683574.1:n.302-171_302-167del
ENST00000683755.1:c.187-171_187-167del	ENSP00000506993.1:n.187-171_187-167del
ENST00000683797.1:c.-165-171_-165-167del	ENSP00000508179.1:n.-165-171_-165-167del
ENST00000683816.1:c.*302-1592_*302-1588del	ENSP00000507834.1:n.*302-1592_*302-1588del
ENST00000683866.1:c.63-1399_63-1395del
ENST00000684134.1:n.3821_3825del
ENST00000684393.1:c.*492-171_*492-167del	ENSP00000507136.1:n.*492-171_*492-167del
ENST00000684501.1:c.187-171_187-167del	ENSP00000507589.1:n.187-171_187-167del